Turner Sendromlu Olguların Değerlendirilmesi

Amaç: Turner sendromu X kromozomlarından birinin kaybı veya yapısal bozukluğu sonucu gelişen ve 2500 doğumda bir görülen genetik bir hastalıktır. Turner sendromu birçok sistemi etkilemektedir. Bu çalışmada Turner sendromlu olgularımızın klinik özellikleri ve eşlik eden anormalliklerin sıklığının değerlendirilmesi amaçlanmıştır.Yöntemler: Çocuk Endokrinolojisi polikliniğinde Ocak 2013-Ocak 2020 tarihleri arasında Turner sendromu tanısı alan hastaların dosyaları retrospektif olarak incelendi. Dosya kayıtlarından hastaların antropometrik ölçümleri, karyotip analizi, başvuru yaş ve şikayetleri, eşlik eden kardiyak, renal ve işitme problemleri ve otoimmün hastalık olup olmadığı kaydedildi.Bulgular: Çalışmaya ortalama başvuru yaşı 9,83±3,81 olan 28 hasta alındı. Yirmi sekiz hastanın 13’ünde ( % 46,4) karyotip analizi 45, X0 saptandı. Başvuru esnasında hastaların ortalama boy standart deviasyon skoru: -3,61 ± 1,17 idi. Yirmi sekiz olgunun 7’sinde (% 25) kardiyak patoloji, 3’ünde (% 10,7) atnalı böbrek anomalisi, 3’ünde (% 10,7) Hashimoto tiroiditi hastalığı ve 2’sinde (% 7,1) Alanin transaminaz yüksekliği saptandı. İşitmesi değerlendirilen 19 hastanın 8’inde (% 42,1) iletim tipi işitme kaybı mevcuttu. Tanı esnasında 27 hastanın pubertesi Tanner evre 1 iken, 1 olguda pubertenin spontan başladığı ve menarş olduğu tespit edildi. Tüm hastalar boy kısalığı ile başvurmuştu.Sonuç: Turner sendromunun en sık görülen iki bulgusu boy kısalığı ve gecikmiş pubertedir. Bunun dışında kalp ve böbrek hastalıkları, gastrointestinal sistem ve işitme problemleri, otoimmün hastalık sıklığında artış gibi başka sistemleri de etkilemektedir. Daha iyi bir final boya ulaşmak ve eşlik eden patolojilerle ilgili komplikasyonları önlemek için erken tanı oldukça önemlidir. Bu çalışma, çocuklarda boy kısalığı ve hipergonadotropik hipogonadizm gibi kardinal bulguların olmamasının, Turner sendromu tanısını ekarte etmeyeceğini göstermiştir.

Evaluatıon Of Cases With Turner Syndrome

Objective: Turner syndrome is a genetic disease that develops as a result of the loss or structural defect of one of the X chromosomes and is seen in every 2500 births. Turner syndrome affects many systems. In this study, it was aimed to evaluate the clinical characteristics of our TS cases and the frequency of accompanying abnormalities. Methods: The files of patients diagnosed with TS between January 2013 and January 2020 in The Pediatric Endocrinology outpatient clinic were retrospectively analyzed. Anthropometric measurements, karyotype analysis, admission age, complaints, accompanying cardiac, renal problems, hearing problems, and autoimmune disease were recorded from the file records. Results: Twenty-eight patients with an average age of 9,83 ± 3,81 were included in the study. Karyotype analysis 45, X0 was detected in 13 (46.4%) of twenty-eight patients. The mean height SDS of the patients at admission was -3,61 ±1,17. In twenty-eight cases, cardiac pathology was detected in 8 (28.6%), Horseshoe kidney anomaly in 3 (10.7%), Hashimoto disease in 3 (10.7%), and alanine-transaminase elevation in 2 (7.1%). Eight (42.1%) of 19 patients whose hearing was evaluated had conductive hearing loss. The puberty of 27 patients at diagnosis was Tanner stage 1, in one case, it was found that puberty started spontaneously and had menarche. All patients presented with short stature. Conclusion: The two most signs of Turner syndrome are short stature and delayed puberty. Apart from this, it affects many systems such as heart and kidney diseases, gastrointestinal and hearing problems, and an increase in the frequency of autoimmune diseases. Early diagnosis is very important in order to achieve a better final height and prevent complications related to concomitant pathologies. This study showed that the absence of cardinal findings such as short stature and hypergonadotropic hypogonadism in children would not rule out the diagnosis of Turner syndrome.

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